Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes
Bursztejn, A.‐C., Briggs, T.A., del Toro Duany, Y., Anderson, B.H., O'Sullivan, J., Williams, S.G., Bodemer, C., Fraitag, S., Gebhard, F., Leheup, B., Lemelle, I., Oojageer, A., Raffo, E., Schmitt, E., Rice, G.I., Hur, S., Crow, Y.J.
Published in British journal of dermatology (1951) (01.12.2015)
Published in British journal of dermatology (1951) (01.12.2015)
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Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech
Bonnet, C, Andrieux, J, Béri-Dexheimer, M, Leheup, B, Boute, O, Manouvrier, S, Delobel, B, Copin, H, Receveur, A, Mathieu, M, Thiriez, G, Le Caignec, C, David, A, de Blois, M C, Malan, V, Philippe, A, Cormier-Daire, V, Colleaux, L, Flori, E, Dollfus, H, Pelletier, V, Thauvin-Robinet, C, Masurel-Paulet, A, Faivre, L, Tardieu, M, Bahi-Buisson, N, Callier, P, Mugneret, F, Edery, P, Jonveaux, P, Sanlaville, D
Published in Journal of medical genetics (01.06.2010)
Published in Journal of medical genetics (01.06.2010)
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Journal Article
Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome
Guissart, Claire, Li, Xiuju, Leheup, Bruno, Drouot, Nathalie, Montaut-Verient, Bettina, Raffo, Emmanuel, Jonveaux, Philippe, Roux, Anne-Françoise, Claustres, Mireille, Fliegel, Larry, Koenig, Michel
Published in Human molecular genetics (15.01.2015)
Published in Human molecular genetics (15.01.2015)
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Journal Article
Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation
Bursztejn, A.C., Magdelaine, C., Mortemousque, B., Zerah, M., Schmutz, J.L., Leheup, B.
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2019)
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2019)
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Journal Article
Maternal opioid addiction: A potential cause of elevated 17-OH progesterone in neonatal screening
Francois-Bic, S., Legagneur, C., Hubert, C., Guéant-Rodriguez, R.-M., Leheup, B., Albuisson, E., Renard, E.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2023)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2023)
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Journal Article
Pathophysiology of impaired ovarian function in galactosaemia
Forges, T., Monnier-Barbarino, P., Leheup, B., Jouvet, P.
Published in Human reproduction update (01.09.2006)
Published in Human reproduction update (01.09.2006)
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Journal Article
Deciphering the natural history of SCA7 in children
Bah, M. G., Rodriguez, D., Cazeneuve, C., Mochel, F., Devos, D., Suppiej, A., Roubertie, A., Meunier, I., Gitiaux, C., Curie, A., Klapczynski, F., Allani‐Essid, N., Carneiro, M., Van Minkelen, R., Kievit, A., Fluss, J., Leheup, B., Ratbi, L., Héron, D., Gras, D., Do Cao, J., Pichard, S., Strubi‐Villaume, I., Audo, I., Lesca, G., Charles, P., Dubois, F., Comet‐Didierjean, P., Capri, Y., Barondiot, C., Barathon, M., Ewenczyk, C., Durr, A., Mignot, C.
Published in European journal of neurology (01.11.2020)
Published in European journal of neurology (01.11.2020)
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Journal Article
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
Willems, M, Geneviève, D, Borck, G, Baumann, C, Baujat, G, Bieth, E, Edery, P, Farra, C, Gerard, M, Héron, D, Leheup, B, Le Merrer, M, Lyonnet, S, Martin-Coignard, D, Mathieu, M, Thauvin-Robinet, C, Verloes, A, Colleaux, L, Munnich, A, Cormier-Daire, V
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
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Journal Article
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome
Lacoste, C., Leheup, B., Agouti, I., Mowat, D., Giuliano, F., Badens, C.
Published in Clinical genetics (01.11.2014)
Published in Clinical genetics (01.11.2014)
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Journal Article
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
Nava, C, Lamari, F, Héron, D, Mignot, C, Rastetter, A, Keren, B, Cohen, D, Faudet, A, Bouteiller, D, Gilleron, M, Jacquette, A, Whalen, S, Afenjar, A, Périsse, D, Laurent, C, Dupuits, C, Gautier, C, Gérard, M, Huguet, G, Caillet, S, Leheup, B, Leboyer, M, Gillberg, C, Delorme, R, Bourgeron, T, Brice, A, Depienne, C
Published in Translational psychiatry (23.10.2012)
Published in Translational psychiatry (23.10.2012)
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Journal Article
30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case
Do Cao, J., Wiedemann, A., Quinaux, T., Battaglia-Hsu, S.F., Mainard, L., Froissart, R., Bonnemains, C., Ragot, S., Leheup, B., Journeau, P., Feillet, F.
Published in Molecular genetics and metabolism reports (01.12.2016)
Published in Molecular genetics and metabolism reports (01.12.2016)
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Journal Article
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Agopiantz, M., Corbonnois, P., Sorlin, A., Bonnet, C., Klein, M., Hubert, N., Pascal-Vigneron, V., Jonveaux, P., Cuny, T., Leheup, B., Weryha, G.
Published in Journal of endocrinological investigation (2014)
Published in Journal of endocrinological investigation (2014)
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Journal Article
Radiological and clinical analysis of Madelung's deformity in children
Huguet, S, Leheup, B, Aslan, M, Muller, F, Dautel, G, Journeau, P
Published in Orthopaedics & traumatology, surgery & research (01.10.2014)
Published in Orthopaedics & traumatology, surgery & research (01.10.2014)
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Journal Article
Height growth during adolescence and final height after haematopoietic SCT for childhood acute leukaemia: the impact of a conditioning regimen with BU or TBI
Bernard, F, Bordigoni, P, Simeoni, M-C, Barlogis, V, Contet, A, Loundou, A, Thuret, I, Leheup, B, Chambost, H, Play, B, Auquier, P, Michel, G
Published in Bone marrow transplantation (Basingstoke) (01.04.2009)
Published in Bone marrow transplantation (Basingstoke) (01.04.2009)
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Journal Article
PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience
Keren, B, Hadchouel, A, Saba, S, Sznajer, Y, Bonneau, D, Leheup, B, Boute, O, Gaillard, D, Lacombe, D, Layet, V, Marlin, S, Mortier, G, Toutain, A, Beylot, C, Baumann, C, Verloes, A, Cavé, H
Published in Journal of medical genetics (01.11.2004)
Published in Journal of medical genetics (01.11.2004)
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Journal Article
Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis
Démurger, F., Pasquier, L., Dubourg, C., Dupé, V., Gicquel, I., Evain, C., Ratié, L., Jaillard, S., Beri, M., Leheup, B., Lespinasse, J., Martin-Coignard, D., Mercier, S., Quelin, C., Loget, P., Marcorelles, P., Laquerrière, A., Bendavid, C., Odent, S., David, V.
Published in Molecular syndromology (01.09.2013)
Published in Molecular syndromology (01.09.2013)
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